Research group lead by Prof. Liu Yizhi, from Zhongshan Ophthalmic Center, Sun Yat-sen University published a paper, entitled “Documenting rare disease data in China” in Science on the 4th of September (2015 Sep 4; 349 (6252): 1064).
Rare diseases increasingly raise awareness in the world. However, the diffuse distribution of rare diseases and the small number of cases in a single study indicate difficulty in systematic and organized research on pathogenesis and effective treatment.
The establishment of rare disease platform enables researchers to collect scattered clinical information and biological data and provides new idea for rare disease treatment. The platform is still in its infancy and needed to be improved in the future. Since 2011, Prof. Liu Yizhi and his research team have collected medical information about congenital cataract and tissue sample data and established the largest evident-based medicine database of congenital cataract worldwide, providing valuable experience in building up a global platform for rare diseases and in conducting precision medicine.
Paper link:
http://www.sciencemag.org/cgi/pmidlookup?view=long&pmid=26339020
